All variants in the GANAB gene

Information The variants shown are described using the NM_198335.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1_18i c.-8465_2246+357del r.0? p.0? - pathogenic (dominant) g.62395927_62422579del g.62628455_62655107del g.62395884_62422536del - GANAB_000009 - Journal: Wilson 2020 ClinVar-SCV000995031 - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.-2538C>A r.(?) p.(=) - VUS g.62416609G>T - INTS5(NM_030628.1):c.943C>A (p.(Arg315=)) - INTS5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-1781A>G r.(?) p.(=) - likely benign g.62415852T>C g.62648380T>C INTS5(NM_030628.2):c.1700A>G (p.Q567R) - INTS5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-508C>T r.(?) p.(=) - likely benign g.62414579G>A g.62647107G>A INTS5(NM_030628.2):c.2973C>T (p.V991=) - INTS5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.20T>G r.(?) p.(Val7Gly) - VUS g.62414052A>C g.62646580A>C GANAB(NM_001278192.1):c.20T>G (p.(Val7Gly)) - GANAB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.38G>A r.(?) p.(Arg13Gln) - likely pathogenic (recessive) g.62414034C>T g.62646562C>T - - GANAB_000025 ACMG PVS1, PM1, PM2, PP3, PP5, PP4, PP1 PubMed: Schuermans 2022 - - Germline - - - - - Johan den Dunnen
-?/. - c.38+17C>T r.(=) p.(=) - likely benign g.62414017G>A - GANAB(NM_198335.4):c.38+17C>T - INTS5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.39-1G>C r.spl p.? - pathogenic (dominant) g.62407204C>G g.62639732C>G - - GANAB_000017 - PubMed: Porath 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.71G>C r.(?) p.(Gly24Ala) - VUS g.62407171C>G - GANAB(NM_198335.4):c.71G>C (p.G24A) - GANAB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.75C>G r.(?) p.(Val25=) - benign g.62407167G>C - GANAB(NM_198335.4):c.75C>G (p.V25=) - GANAB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.152_153del r.(?) p.(Arg51Lysfs*21) - pathogenic (dominant) g.62406933_62406934del g.62639461_62639462del 152_153delGA - GANAB_000016 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.152_153del r.(?) p.(Arg51Lysfs*21) - pathogenic (dominant) g.62406933_62406934del g.62639461_62639462del 152_153delGA - GANAB_000016 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.181C>T r.(?) p.(Arg61*) - pathogenic (dominant) g.62406902G>A g.62639430G>A - - GANAB_000008 - PubMed: Waldrop 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.274C>T r.(?) p.(Gln92*) - pathogenic g.62406561G>A - GANAB(NM_198335.4):c.274C>T (p.Q92*) - GANAB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.341G>A r.(?) p.(Arg114His) - benign g.62406494C>T - GANAB(NM_198335.4):c.341G>A (p.R114H) - GANAB_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.380+15A>G r.(=) p.(=) - likely benign g.62406440T>C - GANAB(NM_198335.4):c.380+15A>G - GANAB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.433G>A r.(?) p.(Gly145Arg) - likely benign g.62402420C>T g.62634948C>T GANAB(NM_001329222.1):c.142G>A (p.G48R) - GANAB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.460C>T r.(?) p.(Arg154Trp) - benign g.62402393G>A - GANAB(NM_198335.4):c.460C>T (p.R154W) - GANAB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.480A>G r.(?) p.(Leu160=) - likely benign g.62402373T>C - - - GANAB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.518G>A r.(?) p.(Arg173Gln) - likely benign g.62402335C>T - GANAB(NM_198335.4):c.518G>A (p.R173Q) - GANAB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.727G>C r.(?) p.(Asp243His) - VUS g.62400713C>G - GANAB(NM_198335.4):c.727G>C (p.D243H) - GANAB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.780G>A r.(?) p.(Pro260=) - benign g.62400660C>T - GANAB(NM_198335.4):c.780G>A (p.P260=) - GANAB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.784+17C>T r.(=) p.(=) - likely benign g.62400639G>A - GANAB(NM_198335.4):c.784+17C>T - GANAB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.933G>A r.(?) p.(Leu311=) - VUS g.62400166C>T g.62632694C>T L311L - GANAB_000043 - PubMed: Cappi 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.1214C>G r.(?) p.(Thr405Arg) - pathogenic (dominant) g.62398504G>C g.62631032G>C - - GANAB_000015 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.1214C>G r.(?) p.(Thr405Arg) - pathogenic (dominant) g.62398504G>C g.62631032G>C - - GANAB_000015 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.1214C>G r.(?) p.(Thr405Arg) - pathogenic (dominant) g.62398504G>C g.62631032G>C - - GANAB_000015 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1216+4C>T r.spl? p.? - likely benign g.62398498G>A - GANAB(NM_198335.4):c.1216+4C>T - GANAB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1249G>A r.(?) p.(Gly417Ser) - VUS g.62398276C>T - GANAB(NM_198335.4):c.1249G>A (p.G417S) - GANAB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1251C>T r.(?) p.(Gly417=) - likely benign g.62398274G>A - GANAB(NM_001329224.1):c.462C>T (p.G154=), GANAB(NM_198334.3):c.1185C>T (p.(Gly395=)) - GANAB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1251C>T r.(?) p.(Gly417=) - likely benign g.62398274G>A - GANAB(NM_001329224.1):c.462C>T (p.G154=), GANAB(NM_198334.3):c.1185C>T (p.(Gly395=)) - GANAB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1265G>T r.(?) p.(Arg422Leu) - pathogenic (dominant) g.62398260C>A g.62630788C>A - - GANAB_000014 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.1265G>T r.(?) p.(Arg422Leu) - pathogenic (dominant) g.62398260C>A g.62630788C>A - - GANAB_000014 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
-?/. - c.1281C>T r.(?) p.(Asp427=) - likely benign g.62398244G>A - GANAB(NM_198335.4):c.1281C>T (p.D427=) - GANAB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1325A>G r.(?) p.(Asn442Ser) - likely benign g.62398200T>C g.62630728T>C GANAB(NM_001329224.1):c.536A>G (p.N179S) - GANAB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1465G>A r.(?) p.(Val489Ile) - likely benign g.62397965C>T - GANAB(NM_198335.4):c.1465G>A (p.V489I) - GANAB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1468G>T r.(?) p.(Asp490Tyr) - VUS g.62397962C>A - GANAB(NM_198335.4):c.1468G>T (p.D490Y) - GANAB_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1533T>C r.(?) p.(Tyr511=) - likely benign g.62397897A>G - GANAB(NM_001329224.1):c.744T>C (p.Y248=), GANAB(NM_198335.4):c.1533T>C (p.Y511=) - GANAB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1533T>C r.(?) p.(Tyr511=) - likely benign g.62397897A>G - GANAB(NM_001329224.1):c.744T>C (p.Y248=), GANAB(NM_198335.4):c.1533T>C (p.Y511=) - GANAB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1593C>T r.(?) p.(Tyr531=) - likely benign g.62397735G>A - GANAB(NM_198335.4):c.1593C>T (p.Y531=) - GANAB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1607A>C r.(?) p.(Asn536Thr) - VUS g.62397721T>G - GANAB(NM_198335.4):c.1607A>C (p.N536T) - GANAB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1656T>C r.(?) p.(Tyr552=) - likely benign g.62397672A>G - GANAB(NM_001329224.1):c.867T>C (p.Y289=) - GANAB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1853G>A r.(?) p.(Arg618His) - likely pathogenic g.62397107C>T g.62629635C>T - - GANAB_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1905C>G r.(?) p.(Ala635=) - likely benign g.62396763G>C - GANAB(NM_001329224.1):c.1116C>G (p.A372=), GANAB(NM_198335.4):c.1905C>G (p.A635=) - GANAB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1905C>G r.(?) p.(Ala635=) - likely benign g.62396763G>C - GANAB(NM_001329224.1):c.1116C>G (p.A372=), GANAB(NM_198335.4):c.1905C>G (p.A635=) - GANAB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1914_1915del r.(?) p.(Asp640Glnfs*77) - pathogenic (dominant) g.62396753_62396754del g.62629281_62629282del 1914_1915delAG - GANAB_000013 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.1914_1915del r.(?) p.(Asp640Glnfs*77) - pathogenic (dominant) g.62396753_62396754del g.62629281_62629282del 1914_1915delAG - GANAB_000013 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.1914_1915del r.(?) p.(Asp640Glnfs*77) - pathogenic (dominant) g.62396753_62396754del g.62629281_62629282del 1914_1915delAG - GANAB_000013 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.1914_1915del r.(?) p.(Asp640Glnfs*77) - pathogenic (dominant) g.62396753_62396754del g.62629281_62629282del 1914_1915delAG - GANAB_000013 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.2158C>T r.(?) p.(Arg720*) - pathogenic g.62396329G>A - GANAB(NM_198335.4):c.2158C>T (p.R720*) - GANAB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2158C>T r.(?) p.(Arg720*) - pathogenic g.62396329G>A - GANAB(NM_198335.4):c.2158C>T (p.R720*) - GANAB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2176C>T r.(?) p.(Arg726*) - pathogenic (dominant) g.62396311G>A g.62628839G>A - - GANAB_000012 - PubMed: Porath 2016 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. - c.2224C>T r.(?) p.(Arg742Trp) - likely benign g.62396263G>A - GANAB(NM_198334.3):c.2158C>T (p.(Arg720Trp)) - GANAB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2225G>A r.(?) p.(Arg742Gln) - likely benign g.62396262C>T - GANAB(NM_198335.4):c.2225G>A (p.R742Q) - GANAB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2239G>A r.(?) p.(Val747Ile) - likely benign g.62396248C>T g.62628776C>T GANAB(NM_001329224.1):c.1450G>A (p.V484I), GANAB(NM_198335.4):c.2239G>A (p.V747I) - GANAB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.2239G>A r.(?) p.(Val747Ile) - benign g.62396248C>T - GANAB(NM_001329224.1):c.1450G>A (p.V484I), GANAB(NM_198335.4):c.2239G>A (p.V747I) - GANAB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2343C>T r.(?) p.(Asp781=) - likely benign g.62394565G>A g.62627093G>A GANAB(NM_001329224.1):c.1554C>T (p.D518=) - B3GAT3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2419C>A r.(?) p.(His807Asn) - likely benign g.62394376G>T - GANAB(NM_198335.4):c.2419C>A (p.H807N) - B3GAT3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2515C>T r.(?) p.(Arg839Trp) - pathogenic (dominant) g.62394105G>A g.62626633G>A - - GANAB_000011 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.2515C>T r.(?) p.(Arg839Trp) - pathogenic (dominant) g.62394105G>A g.62626633G>A - - GANAB_000011 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.2515C>T r.(?) p.(Arg839Trp) - pathogenic (dominant) g.62394105G>A g.62626633G>A - - GANAB_000011 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
?/. - c.2558T>C r.(?) p.(Phe853Ser) - VUS g.62394062A>G g.62626590A>G - - B3GAT3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.2614C>T r.(?) p.(His872Tyr) - VUS g.62393883G>A g.62626411G>A GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)), GANAB(NM_198335.4):c.2614C>T (p.H872Y) - GANAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.2614C>T r.(?) p.(His872Tyr) - benign g.62393883G>A - GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)), GANAB(NM_198335.4):c.2614C>T (p.H872Y) - GANAB_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2690+2_2690+7del r.spl p.? - pathogenic (dominant) g.62393802_62393807del g.62626330_62626335del 2690+2_+7del - GANAB_000010 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.2690+2_2690+7del r.spl p.? - pathogenic (dominant) g.62393802_62393807del g.62626330_62626335del 2690+2_+7del - GANAB_000010 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.2690+2_2690+7del r.spl p.? - pathogenic (dominant) g.62393802_62393807del g.62626330_62626335del 2690+2_+7del - GANAB_000010 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
+/. - c.2690+2_2690+7del r.spl p.? - pathogenic (dominant) g.62393802_62393807del g.62626330_62626335del 2690+2_+7del - GANAB_000010 - PubMed: Porath 2016 - - Germline yes - - - - Johan den Dunnen
?/. - c.2699A>G r.(?) p.(Asp900Gly) - VUS g.62393629T>C - GANAB(NM_198335.4):c.2699A>G (p.D900G) - B3GAT3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2738G>A r.(?) p.(Arg913Gln) - likely benign g.62393590C>T - GANAB(NM_198335.4):c.2738G>A (p.R913Q) - B3GAT3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 24i c.2791+4_2791+12del r.(2691_2791del) p.(Ser897Argfs*12) - pathogenic (dominant) g.62393525_62393533del g.62626053_62626061del 2791+4_2791+12delAGTGACCAA - GANAB_000001 minigene splice assay shows exon 24 skipping PubMed: Bess 2018 - - Germline/De novo (untested) yes - - - - Whitney Besse
+/. - c.*3868A>T r.(=) p.(=) - pathogenic g.62389419T>A g.62621947T>A B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.*3868A>T r.(=) p.(=) - likely pathogenic g.62389419T>A g.62621947T>A B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.*3868A>T r.(=) p.(=) - likely pathogenic g.62389419T>A - B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.*3868A>T r.(=) p.(=) - pathogenic g.62389419T>A - B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*3925C>T r.(=) p.(=) - VUS g.62389362G>A - B3GAT3(NM_012200.4):c.58C>T (p.(Leu20Phe)) - B3GAT3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*5165C>T r.(=) p.(=) - VUS g.62388122G>A - B3GAT3(NM_012200.4):c.104C>T (p.P35L) - B3GAT3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*5169C>T r.(=) p.(=) - likely benign g.62388118G>A - B3GAT3(NM_012200.4):c.108C>T (p.P36=) - B3GAT3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.*5173C>T r.(=) p.(=) - VUS g.62388114G>A - - - B3GAT3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.*5228C>T r.(=) p.(=) - likely benign g.62388059G>A g.62620587G>A B3GAT3(NM_012200.3):c.167C>T (p.(Ala56Val)) - B3GAT3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.*5236C>T r.(=) p.(=) - likely pathogenic g.62388051G>A g.62620579G>A B3GAT3(NM_001288723.1):c.175C>T (p.R59*) - B3GAT3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*5274C>T r.(=) p.(=) - likely benign g.62388013G>A g.62620541G>A B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.4):c.213C>T (p.P71=) - B3GAT3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.*5274C>T r.(=) p.(=) - likely benign g.62388013G>A g.62620541G>A B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.4):c.213C>T (p.P71=) - B3GAT3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*5321A>G r.(=) p.(=) - VUS g.62387966T>C g.62620494T>C B3GAT3(NM_012200.3):c.257+3A>G (p.?) - B3GAT3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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